| Metadata | |
|---|---|
| ID | DOID:0110843 |
| Name | xeroderma pigmentosum group A |
| Definition | A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22. https://www.ncbi.nlm.nih.gov/pubmed/2168777, https://www.ncbi.nlm.nih.gov/pubmed/2234061 |
| Xrefs | |
| Synonyms |
xeroderma pigmentosum 1 [EXACT] xeroderma pigmentosum complementation group A [EXACT] XP group A [EXACT] XP1 [EXACT] XPA [EXACT] |
| Parent Relationships |